ANKRD63
Ankyrin Repeat Domain 63
Gene Information Card
| Symbol | ANKRD63 |
|---|---|
| Full Name | Ankyrin Repeat Domain 63 |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 100130502 ncbi.nlm.nih.gov/gene/100130502 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | A6NKD9 |
| OMIM ID | - |
| HGNC ID | 37207 |
| Aliases | FLJ45831 |
Description
ANKRD63 (Ankyrin Repeat Domain 63) is a protein-coding gene located on chromosome 15q26.3. It encodes a protein containing ankyrin repeats, which are common motifs involved in protein-protein interactions. The specific biological function of ANKRD63 is not fully characterized, but it may play a role in cellular signaling or structural organization. Expression data suggest low to moderate levels in certain tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.3 | Low |
| Thyroid | 1.1 | Low |
| Adrenal gland | 0.9 | Low |
| Lung | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.8 | Low expression |
| K562 | 0.4 | Not detected |
| HeLa | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | - | - | - |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Protein Summary
The ANKRD63 protein (UniProt A6NKD9) is 341 amino acids long and contains ankyrin repeat domains. Its exact molecular function and cellular role remain largely unknown, with no established enzymatic activity or binding partners. Predicted to be intracellular, possibly involved in protein complex formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
